Additional file for “Gene gravity-like algorithm for disease gene prediction based on phenotype-specific network”
Contents
Table S1. The 633 disease genes corresponding to the 113 phenotypescollected from the OMIM database.
Table S2. The 572 disease genes corresponding to the 54 diseases which are included in the DisGeNET database.
Table S1. The 633 disease genes corresponding to the 113 phenotypes collected from the OMIM database.
OMIM ID / Phenotype / Gene symbol / Entrez ID125853 / Diabetes mellitus / AKT2 / 208
125853 / Diabetes mellitus / GCGR / 2642
125853 / Diabetes mellitus / GCK / 2645
125853 / Diabetes mellitus / GPD2 / 2820
125853 / Diabetes mellitus / HMGA1 / 3159
125853 / Diabetes mellitus / HNF4A / 3172
125853 / Diabetes mellitus / IL6 / 3569
125853 / Diabetes mellitus / PDX1 / 3651
125853 / Diabetes mellitus / IRS1 / 3667
125853 / Diabetes mellitus / KCNJ11 / 3767
125853 / Diabetes mellitus / LIPC / 3990
125853 / Diabetes mellitus / MTNR1B / 4544
125853 / Diabetes mellitus / NEUROD1 / 4760
125853 / Diabetes mellitus / PAX4 / 5078
125853 / Diabetes mellitus / ENPP1 / 5167
125853 / Diabetes mellitus / PPARG / 5468
125853 / Diabetes mellitus / PTPN1 / 5770
125853 / Diabetes mellitus / SLC2A2 / 6514
125853 / Diabetes mellitus / ABCC8 / 6833
125853 / Diabetes mellitus / HNF1A / 6927
125853 / Diabetes mellitus / HNF1B / 6928
125853 / Diabetes mellitus / TCF7L2 / 6934
125853 / Diabetes mellitus / WFS1 / 7466
125853 / Diabetes mellitus / IRS2 / 8660
125853 / Diabetes mellitus / MAPK8IP1 / 9479
125853 / Diabetes mellitus / IGF2BP2 / 10644
125853 / Diabetes mellitus / CDKAL1 / 54901
125853 / Diabetes mellitus / RETN / 56729
125853 / Diabetes mellitus / SLC30A8 / 169026
114500 / Colon cancer / AKT1 / 207
114500 / Colon cancer / APC / 324
114500 / Colon cancer / BAX / 581
114500 / Colon cancer / CCND1 / 595
114500 / Colon cancer / BUB1B / 701
114500 / Colon cancer / CTNNB1 / 1499
114500 / Colon cancer / DCC / 1630
114500 / Colon cancer / EP300 / 2033
114500 / Colon cancer / FGFR3 / 2261
114500 / Colon cancer / MCC / 4163
114500 / Colon cancer / NRAS / 4893
114500 / Colon cancer / ODC1 / 4953
114500 / Colon cancer / PDGFRL / 5157
114500 / Colon cancer / PIK3CA / 5290
114500 / Colon cancer / PLA2G2A / 5320
114500 / Colon cancer / PTPN12 / 5782
114500 / Colon cancer / PTPRJ / 5795
114500 / Colon cancer / AURKA / 6790
114500 / Colon cancer / TLR2 / 7097
114500 / Colon cancer / TLR4 / 7099
114500 / Colon cancer / TP53 / 7157
114500 / Colon cancer / AXIN2 / 8313
114500 / Colon cancer / DLC1 / 10395
114500 / Colon cancer / RAD54B / 25788
114500 / Colon cancer / MLH3 / 27030
114500 / Colon cancer / FLCN / 201163
114480 / Breast cancer / AKT1 / 207
114480 / Breast cancer / ATM / 472
114480 / Breast cancer / BARD1 / 580
114480 / Breast cancer / BRCA2 / 675
114480 / Breast cancer / CASP8 / 841
114480 / Breast cancer / CDH1 / 999
114480 / Breast cancer / ESR1 / 2099
114480 / Breast cancer / HMMR / 3161
114480 / Breast cancer / KRAS / 3845
114480 / Breast cancer / NQO2 / 4835
114480 / Breast cancer / SLC22A18 / 5002
114480 / Breast cancer / PHB / 5245
114480 / Breast cancer / PIK3CA / 5290
114480 / Breast cancer / RAD51 / 5888
114480 / Breast cancer / TP53 / 7157
114480 / Breast cancer / TSG101 / 7251
114480 / Breast cancer / XRCC3 / 7517
114480 / Breast cancer / RAD54L / 8438
114480 / Breast cancer / PPM1D / 8493
114480 / Breast cancer / RB1CC1 / 9821
114480 / Breast cancer / CHEK2 / 11200
114480 / Breast cancer / BRIP1 / 83990
601626 / Leukemia / RUNX1 / 861
601626 / Leukemia / CBFB / 865
601626 / Leukemia / CEBPA / 1050
601626 / Leukemia / ETV6 / 2120
601626 / Leukemia / FLT3 / 2322
601626 / Leukemia / GATA2 / 2624
601626 / Leukemia / JAK2 / 3717
601626 / Leukemia / KIT / 3815
601626 / Leukemia / KRAS / 3845
601626 / Leukemia / LPP / 4026
601626 / Leukemia / MLF1 / 4291
601626 / Leukemia / NPM1 / 4869
601626 / Leukemia / SH3GL1 / 6455
601626 / Leukemia / TERT / 7015
601626 / Leukemia / NUP214 / 8021
601626 / Leukemia / MLLT10 / 8028
601626 / Leukemia / PICALM / 8301
601626 / Leukemia / CHIC2 / 26511
601626 / Leukemia / WHSC1L1 / 54904
601626 / Leukemia / NSD1 / 64324
252010 / Mitochondrial complex I deficiency / NDUFA1 / 4694
252010 / Mitochondrial complex I deficiency / NDUFB3 / 4709
252010 / Mitochondrial complex I deficiency / NDUFB9 / 4715
252010 / Mitochondrial complex I deficiency / NDUFS1 / 4719
252010 / Mitochondrial complex I deficiency / NDUFS2 / 4720
252010 / Mitochondrial complex I deficiency / NDUFS3 / 4722
252010 / Mitochondrial complex I deficiency / NDUFV1 / 4723
252010 / Mitochondrial complex I deficiency / NDUFS4 / 4724
252010 / Mitochondrial complex I deficiency / NDUFS6 / 4726
252010 / Mitochondrial complex I deficiency / NDUFV2 / 4729
252010 / Mitochondrial complex I deficiency / NDUFAF3 / 25915
252010 / Mitochondrial complex I deficiency / NDUFAF4 / 29078
252010 / Mitochondrial complex I deficiency / NDUFAF1 / 51103
252010 / Mitochondrial complex I deficiency / FOXRED1 / 55572
252010 / Mitochondrial complex I deficiency / NDUFAF5 / 79133
252010 / Mitochondrial complex I deficiency / NUBPL / 80224
252010 / Mitochondrial complex I deficiency / NDUFAF2 / 91942
252010 / Mitochondrial complex I deficiency / NDUFA11 / 126328
211980 / Lung cancer / FASLG / 356
211980 / Lung cancer / BRAF / 673
211980 / Lung cancer / CASP8 / 841
211980 / Lung cancer / MAP3K8 / 1326
211980 / Lung cancer / CYP2A6 / 1548
211980 / Lung cancer / EGFR / 1956
211980 / Lung cancer / ERBB2 / 2064
211980 / Lung cancer / ERCC6 / 2074
211980 / Lung cancer / IRF1 / 3659
211980 / Lung cancer / KRAS / 3845
211980 / Lung cancer / SLC22A18 / 5002
211980 / Lung cancer / PARK2 / 5071
211980 / Lung cancer / PIK3CA / 5290
211980 / Lung cancer / PPP2R1B / 5519
211980 / Lung cancer / DLEC1 / 9940
211980 / Lung cancer / RASSF1 / 11186
256000 / Leigh syndrome / BCS1L / 617
256000 / Leigh syndrome / COX10 / 1352
256000 / Leigh syndrome / COX15 / 1355
256000 / Leigh syndrome / NDUFA2 / 4695
256000 / Leigh syndrome / NDUFA9 / 4704
256000 / Leigh syndrome / NDUFA10 / 4705
256000 / Leigh syndrome / NDUFS3 / 4722
256000 / Leigh syndrome / NDUFS4 / 4724
256000 / Leigh syndrome / NDUFS8 / 4728
256000 / Leigh syndrome / SDHA / 6389
256000 / Leigh syndrome / SURF1 / 6834
256000 / Leigh syndrome / FOXRED1 / 55572
256000 / Leigh syndrome / NDUFA12 / 55967
256000 / Leigh syndrome / NDUFAF2 / 91942
256000 / Leigh syndrome / NDUFAF6 / 137682
256000 / Leigh syndrome / NDUFS7 / 374291
181500 / Schizophrenia / AKT1 / 207
181500 / Schizophrenia / CHI3L1 / 1116
181500 / Schizophrenia / COMT / 1312
181500 / Schizophrenia / DAO / 1610
181500 / Schizophrenia / DRD3 / 1814
181500 / Schizophrenia / HTR2A / 3356
181500 / Schizophrenia / MTHFR / 4524
181500 / Schizophrenia / SYN2 / 6854
181500 / Schizophrenia / APOL2 / 23780
181500 / Schizophrenia / DISC1 / 27185
181500 / Schizophrenia / RTN4R / 65078
181500 / Schizophrenia / DTNBP1 / 84062
601665 / Obesity / ADRB2 / 154
601665 / Obesity / ADRB3 / 155
601665 / Obesity / AGRP / 181
601665 / Obesity / MC4R / 4160
601665 / Obesity / ENPP1 / 5167
601665 / Obesity / POMC / 5443
601665 / Obesity / PPARG / 5468
601665 / Obesity / SIM1 / 6492
601665 / Obesity / UCP1 / 7350
601665 / Obesity / UCP3 / 7352
601665 / Obesity / NR0B2 / 8431
601665 / Obesity / CARTPT / 9607
601665 / Obesity / SDC3 / 9672
601665 / Obesity / GHRL / 51738
601665 / Obesity / PPARGC1B / 133522
608446 / Myocardial infarcation / ESR1 / 2099
608446 / Myocardial infarcation / F7 / 2155
608446 / Myocardial infarcation / F13A1 / 2162
608446 / Myocardial infarcation / GCLC / 2729
608446 / Myocardial infarcation / GCLM / 2730
608446 / Myocardial infarcation / ITGB3 / 3690
608446 / Myocardial infarcation / LGALS2 / 3957
608446 / Myocardial infarcation / LTA / 4049
608446 / Myocardial infarcation / OLR1 / 4973
608446 / Myocardial infarcation / PSMA6 / 5687
608446 / Myocardial infarcation / TNFSF4 / 7292
608446 / Myocardial infarcation / LRP8 / 7804
145500 / Hypertension / ADD1 / 118
145500 / Hypertension / AGT / 183
145500 / Hypertension / AGTR1 / 185
145500 / Hypertension / ATP1B1 / 481
145500 / Hypertension / CYP3A5 / 1577
145500 / Hypertension / ECE1 / 1889
145500 / Hypertension / GNB3 / 2784
145500 / Hypertension / NOS2 / 4843
145500 / Hypertension / NOS3 / 4846
145500 / Hypertension / PTGIS / 5740
145500 / Hypertension / SELE / 6401
145500 / Hypertension / RGS5 / 8490
176807 / Prostate cancer / AR / 367
176807 / Prostate cancer / ZFHX3 / 463
176807 / Prostate cancer / BRCA2 / 675
176807 / Prostate cancer / CDH1 / 999
176807 / Prostate cancer / KLF6 / 1316
176807 / Prostate cancer / HIP1 / 3092
176807 / Prostate cancer / CD82 / 3732
176807 / Prostate cancer / MSR1 / 4481
176807 / Prostate cancer / MXI1 / 4601
176807 / Prostate cancer / PTEN / 5728
176807 / Prostate cancer / MAD1L1 / 8379
176807 / Prostate cancer / CHEK2 / 11200
104300 / Alzheimer disease / A2M / 2
104300 / Alzheimer disease / APBB2 / 323
104300 / Alzheimer disease / APP / 351
104300 / Alzheimer disease / BLMH / 642
104300 / Alzheimer disease / ACE / 1636
104300 / Alzheimer disease / HFE / 3077
104300 / Alzheimer disease / MPO / 4353
104300 / Alzheimer disease / NOS3 / 4846
104300 / Alzheimer disease / PLAU / 5328
104300 / Alzheimer disease / SORL1 / 6653
104300 / Alzheimer disease / PAXIP1 / 22976
600807 / Asthma / ADRB2 / 154
600807 / Asthma / ALOX5 / 240
600807 / Asthma / HLA-G / 3135
600807 / Asthma / HNMT / 3176
600807 / Asthma / IL13 / 3596
600807 / Asthma / MUC7 / 4589
600807 / Asthma / CCL11 / 6356
600807 / Asthma / TNF / 7124
600807 / Asthma / PLA2G7 / 7941
600807 / Asthma / PHF11 / 51131
600807 / Asthma / SCGB3A2 / 117156
607948 / Mycobacterium tuberculosis / CISH / 1154
607948 / Mycobacterium tuberculosis / SP110 / 3431
607948 / Mycobacterium tuberculosis / IFNG / 3458
607948 / Mycobacterium tuberculosis / IFNGR1 / 3459
607948 / Mycobacterium tuberculosis / MC3R / 4159
607948 / Mycobacterium tuberculosis / CCL2 / 6347
607948 / Mycobacterium tuberculosis / SLC11A1 / 6556
607948 / Mycobacterium tuberculosis / TLR2 / 7097
607948 / Mycobacterium tuberculosis / CD209 / 30835
607948 / Mycobacterium tuberculosis / TIRAP / 114609
220110 / Mitochondrial complex IV deficiency / COX6B1 / 1340
220110 / Mitochondrial complex IV deficiency / COX8A / 1351
220110 / Mitochondrial complex IV deficiency / COX10 / 1352
220110 / Mitochondrial complex IV deficiency / SCO1 / 6341
220110 / Mitochondrial complex IV deficiency / FASTKD2 / 22868
220110 / Mitochondrial complex IV deficiency / TACO1 / 51204
220110 / Mitochondrial complex IV deficiency / APOPT1 / 84334
220110 / Mitochondrial complex IV deficiency / COX20 / 116228
114550 / Hepatoblastoma / APC / 324
114550 / Hepatoblastoma / CASP8 / 841
114550 / Hepatoblastoma / CTNNB1 / 1499
114550 / Hepatoblastoma / IGF2R / 3482
114550 / Hepatoblastoma / MET / 4233
114550 / Hepatoblastoma / PDGFRL / 5157
114550 / Hepatoblastoma / PIK3CA / 5290
114550 / Hepatoblastoma / TP53 / 7157
114550 / Hepatoblastoma / AXIN1 / 8312
147050 / Atopy / MS4A2 / 2206
147050 / Atopy / IL4R / 3566
147050 / Atopy / SELP / 6403
147050 / Atopy / PLA2G7 / 7941
147050 / Atopy / SPINK5 / 11005
147050 / Atopy / HAVCR1 / 26762
147050 / Atopy / IL21R / 50615
147050 / Atopy / PHF11 / 51131
171300 / Pheochromocytoma / GDNF / 2668
171300 / Pheochromocytoma / MAX / 4149
171300 / Pheochromocytoma / RET / 5979
171300 / Pheochromocytoma / SDHB / 6390
171300 / Pheochromocytoma / SDHD / 6392
171300 / Pheochromocytoma / VHL / 7428
171300 / Pheochromocytoma / KIF1B / 23095
171300 / Pheochromocytoma / TMEM127 / 55654
180300 / Rheumatoid arthritis / HLA-DRB1 / 3123
180300 / Rheumatoid arthritis / IL10 / 3586
180300 / Rheumatoid arthritis / CIITA / 4261
180300 / Rheumatoid arthritis / NFKBIL1 / 4795
180300 / Rheumatoid arthritis / SLC22A4 / 6583
180300 / Rheumatoid arthritis / PADI4 / 23569
180300 / Rheumatoid arthritis / PTPN22 / 26191
180300 / Rheumatoid arthritis / CD244 / 51744
133239 / Esophageal cancer / DCC / 1630
133239 / Esophageal cancer / RNF6 / 6049
133239 / Esophageal cancer / TGFBR2 / 7048
133239 / Esophageal cancer / DLEC1 / 9940
133239 / Esophageal cancer / LZTS1 / 11178
133239 / Esophageal cancer / 1-Dec / 50514
133239 / Esophageal cancer / WWOX / 51741
143890 / Hypercholesterolemia / ABCA1 / 19
143890 / Hypercholesterolemia / APOA2 / 336
143890 / Hypercholesterolemia / EPHX2 / 2053
143890 / Hypercholesterolemia / GHR / 2690
143890 / Hypercholesterolemia / ITIH4 / 3700
143890 / Hypercholesterolemia / LDLR / 3949
143890 / Hypercholesterolemia / PPP1R17 / 10842
144700 / Renal cell carcinoma / OGG1 / 4968
144700 / Renal cell carcinoma / HNF1A / 6927
144700 / Renal cell carcinoma / HNF1B / 6928
144700 / Renal cell carcinoma / VHL / 7428
144700 / Renal cell carcinoma / RNF139 / 11236
144700 / Renal cell carcinoma / DIRC2 / 84925
144700 / Renal cell carcinoma / FLCN / 201163
187500 / Tetralogy of Fallot / JAG1 / 182
187500 / Tetralogy of Fallot / NKX2-5 / 1482
187500 / Tetralogy of Fallot / GATA4 / 2626
187500 / Tetralogy of Fallot / GATA6 / 2627
187500 / Tetralogy of Fallot / GDF1 / 2657
187500 / Tetralogy of Fallot / TBX1 / 6899
187500 / Tetralogy of Fallot / ZFPM2 / 23414
103780 / Alcohol dependence / ADH1B / 125
103780 / Alcohol dependence / ADH1C / 126
103780 / Alcohol dependence / GABRA2 / 2555
103780 / Alcohol dependence / HTR2A / 3356
103780 / Alcohol dependence / RCBTB1 / 55213
152700 / Lupus nephritis / CTLA4 / 1493
152700 / Lupus nephritis / DNASE1 / 1773
152700 / Lupus nephritis / FCGR2A / 2212
152700 / Lupus nephritis / FCGR2B / 2213
152700 / Lupus nephritis / TREX1 / 11277
152700 / Lupus nephritis / PTPN22 / 26191
166710 / Osteoporosis / CALCR / 799
166710 / Osteoporosis / COL1A1 / 1277
166710 / Osteoporosis / COL1A2 / 1278
166710 / Osteoporosis / LRP5 / 4041
166710 / Osteoporosis / VDR / 7421
166710 / Osteoporosis / PDLIM4 / 8572
209880 / Central hypoventilation syndrome / ASCL1 / 429
209880 / Central hypoventilation syndrome / BDNF / 627
209880 / Central hypoventilation syndrome / EDN3 / 1908
209880 / Central hypoventilation syndrome / GDNF / 2668
209880 / Central hypoventilation syndrome / RET / 5979
209880 / Central hypoventilation syndrome / PHOX2B / 8929
603932 / Intervertebral disc disease / COL9A2 / 1298
603932 / Intervertebral disc disease / COL9A3 / 1299
603932 / Intervertebral disc disease / COL11A1 / 1301
603932 / Intervertebral disc disease / THBS2 / 7058
603932 / Intervertebral disc disease / CILP / 8483
603932 / Intervertebral disc disease / ASPN / 54829
607174 / Meningioma / MN1 / 4330
607174 / Meningioma / NF2 / 4771
607174 / Meningioma / PDGFB / 5155
607174 / Meningioma / PTEN / 5728
607174 / Meningioma / SMARCE1 / 6605
607174 / Meningioma / SUFU / 51684
167800 / Pancreatitis / CFTR / 1080
167800 / Pancreatitis / PRSS1 / 5644
167800 / Pancreatitis / PRSS2 / 5645
167800 / Pancreatitis / SPINK1 / 6690
167800 / Pancreatitis / CTRC / 11330
168600 / Parkinson disease / ADH1C / 126
168600 / Parkinson disease / GBA / 2629
168600 / Parkinson disease / MAPT / 4137
168600 / Parkinson disease / ATXN2 / 6311
168600 / Parkinson disease / TBP / 6908
182940 / Neural tube defects / CCL2 / 6347
182940 / Neural tube defects / T / 6862
182940 / Neural tube defects / VANGL2 / 57216
182940 / Neural tube defects / FUZ / 80199
182940 / Neural tube defects / VANGL1 / 81839
217095 / Conotruncal anomaly face syndrome / NKX2-5 / 1482
217095 / Conotruncal anomaly face syndrome / GATA6 / 2627
217095 / Conotruncal anomaly face syndrome / GDF1 / 2657
217095 / Conotruncal anomaly face syndrome / TBX1 / 6899
222100 / Diabetes, type 1 / ITPR3 / 3710
222100 / Diabetes, type 1 / OAS1 / 4938
222100 / Diabetes, type 1 / HNF1A / 6927
222100 / Diabetes, type 1 / PTPN22 / 26191
222100 / Diabetes, type 1 / FOXP3 / 50943
226650 / Epidermolysisbullosa / COL17A1 / 1308
226650 / Epidermolysisbullosa / ITGB4 / 3691
226650 / Epidermolysisbullosa / LAMA3 / 3909
226650 / Epidermolysisbullosa / LAMB3 / 3914
226650 / Epidermolysisbullosa / LAMC2 / 3918
601367 / Cerebral infarction / ALOX5AP / 241
601367 / Cerebral infarction / F2 / 2147
601367 / Cerebral infarction / F5 / 2153
601367 / Cerebral infarction / NOS3 / 4846
601367 / Cerebral infarction / PRKCH / 5583
603896 / Leukoencephalopathy with vanishing white matter / EIF2B1 / 1967
603896 / Leukoencephalopathy with vanishing white matter / EIF2B4 / 8890
603896 / Leukoencephalopathy with vanishing white matter / EIF2B3 / 8891
603896 / Leukoencephalopathy with vanishing white matter / EIF2B2 / 8892
603896 / Leukoencephalopathy with vanishing white matter / EIF2B5 / 8893
605027 / Lymphoma, follicular / CASP10 / 843
605027 / Lymphoma, follicular / PRF1 / 5551
605027 / Lymphoma, follicular / RAD54L / 8438
605027 / Lymphoma, follicular / BCL10 / 8915
605027 / Lymphoma, follicular / RAD54B / 25788
105200 / Amyloidosis, familial visceral / APOA1 / 335
105200 / Amyloidosis, familial visceral / B2M / 567
105200 / Amyloidosis, familial visceral / FGA / 2243
105200 / Amyloidosis, familial visceral / LYZ / 4069
105400 / Amyotrophic lateral sclerosis / DCTN1 / 1639
105400 / Amyotrophic lateral sclerosis / NEFH / 4744
105400 / Amyotrophic lateral sclerosis / PRPH / 5630
105400 / Amyotrophic lateral sclerosis / SOD1 / 6647
109800 / Bladder cancer / FGFR3 / 2261
109800 / Bladder cancer / HRAS / 3265
109800 / Bladder cancer / KRAS / 3845
109800 / Bladder cancer / RB1 / 5925
122700 / Warfarin sensitivity / CYP2A6 / 1548
122700 / Warfarin sensitivity / CYP2C9 / 1559
122700 / Warfarin sensitivity / F9 / 2158
122700 / Warfarin sensitivity / VKORC1 / 79001
136880 / Fundus albipunctatus / RDH5 / 5959
136880 / Fundus albipunctatus / PRPH2 / 5961
136880 / Fundus albipunctatus / RHO / 6010
136880 / Fundus albipunctatus / RLBP1 / 6017
137215 / Gastric cancer / CDH1 / 999
137215 / Gastric cancer / IL1B / 3553
137215 / Gastric cancer / IL1RN / 3557
137215 / Gastric cancer / KRAS / 3845
145900 / Dejerine-Sottas disease / EGR2 / 1959
145900 / Dejerine-Sottas disease / MPZ / 4359
145900 / Dejerine-Sottas disease / PMP22 / 5376
145900 / Dejerine-Sottas disease / PRX / 57716
162900 / Dejerine-Sottas disease / FGFR3 / 2261
162900 / Dejerine-Sottas disease / HRAS / 3265
162900 / Dejerine-Sottas disease / NRAS / 4893
162900 / Dejerine-Sottas disease / PIK3CA / 5290
188050 / Thromboembolism / F2 / 2147
188050 / Thromboembolism / F13A1 / 2162
188050 / Thromboembolism / HABP2 / 3026
188050 / Thromboembolism / MTHFR / 4524
188470 / Thyroid cancer / HRAS / 3265
188470 / Thyroid cancer / NRAS / 4893
188470 / Thyroid cancer / MINPP1 / 9562
188470 / Thyroid cancer / SRGAP1 / 57522
188890 / Nicotine addiction / CHRNA4 / 1137
188890 / Nicotine addiction / CYP2A6 / 1548
188890 / Nicotine addiction / SLC6A3 / 6531
188890 / Nicotine addiction / GABBR2 / 9568
209920 / Bare lymphocyte syndrome / CIITA / 4261
209920 / Bare lymphocyte syndrome / RFX5 / 5993
209920 / Bare lymphocyte syndrome / RFXAP / 5994
209920 / Bare lymphocyte syndrome / RFXANK / 8625
254450 / Myelofibrosis / CALR / 811
254450 / Myelofibrosis / JAK2 / 3717
254450 / Myelofibrosis / MPL / 4352
254450 / Myelofibrosis / SH2B3 / 10019
260350 / Pancreatic cancer / KRAS / 3845
260350 / Pancreatic cancer / SMAD4 / 4089
260350 / Pancreatic cancer / STK11 / 6794
260350 / Pancreatic cancer / TP53 / 7157
267430 / Renal tubular dysgenesis / AGT / 183
267430 / Renal tubular dysgenesis / AGTR1 / 185
267430 / Renal tubular dysgenesis / ACE / 1636
267430 / Renal tubular dysgenesis / REN / 5972
276300 / Mismatch repair cancer syndrome / MSH6 / 2956
276300 / Mismatch repair cancer syndrome / MLH1 / 4292
276300 / Mismatch repair cancer syndrome / MSH2 / 4436
276300 / Mismatch repair cancer syndrome / PMS2 / 5395
601634 / Neural tube defects / MTHFD1 / 4522
601634 / Neural tube defects / MTHFR / 4524
601634 / Neural tube defects / MTR / 4548
601634 / Neural tube defects / MTRR / 4552
601680 / Arthrogryposis multiplex congenita / MYH3 / 4621
601680 / Arthrogryposis multiplex congenita / TNNI2 / 7136
601680 / Arthrogryposis multiplex congenita / TNNT3 / 7140
601680 / Arthrogryposis multiplex congenita / TPM2 / 7169
606176 / Diabetes mellitus / GCK / 2645
606176 / Diabetes mellitus / INS / 3630
606176 / Diabetes mellitus / KCNJ11 / 3767
606176 / Diabetes mellitus / ABCC8 / 6833
606764 / Gastrointestinal stromal tumor / KIT / 3815
606764 / Gastrointestinal stromal tumor / PDGFRA / 5156
606764 / Gastrointestinal stromal tumor / SDHB / 6390
606764 / Gastrointestinal stromal tumor / SDHC / 6391
607785 / Leukemia / NF1 / 4763
607785 / Leukemia / PTPN11 / 5781
607785 / Leukemia / MLLT11 / 10962
607785 / Leukemia / ARHGAP26 / 23092
109400 / Basal cell nevus syndrome / PTCH1 / 5727
109400 / Basal cell nevus syndrome / PTCH2 / 8643
109400 / Basal cell nevus syndrome / SUFU / 51684
112600 / Brachydactyly / BMP2 / 650
112600 / Brachydactyly / BMPR1B / 658
112600 / Brachydactyly / GDF5 / 8200
126200 / Multiple sclerosis / HLA-DQB1 / 3119
126200 / Multiple sclerosis / HLA-DRB1 / 3123
126200 / Multiple sclerosis / PDCD1 / 5133
127750 / Lewy body dementia / GBA / 2629
127750 / Lewy body dementia / SNCB / 6620
127750 / Lewy body dementia / SNCA / 6622
130000 / Ehlers-Danlos syndrome / COL1A1 / 1277
130000 / Ehlers-Danlos syndrome / COL5A1 / 1289
130000 / Ehlers-Danlos syndrome / COL5A2 / 1290
131800 / Epidermolysisbullosa of hands and feet / ITGB4 / 3691
131800 / Epidermolysisbullosa of hands and feet / KRT5 / 3852
131800 / Epidermolysisbullosa of hands and feet / KRT14 / 3861
133100 / [Erythrocytosis, familial / EPOR / 2057
133100 / [Erythrocytosis, familial / JAK2 / 3717
133100 / [Erythrocytosis, familial / SH2B3 / 10019
133200 / Erythrokeratodermiavariabilis et progressiva / GJA1 / 2697
133200 / Erythrokeratodermiavariabilis et progressiva / GJB3 / 2707
133200 / Erythrokeratodermiavariabilis et progressiva / GJB4 / 127534
137800 / Glioma susceptibility 1 / ERBB2 / 2064
137800 / Glioma susceptibility 1 / IDH1 / 3417
137800 / Glioma susceptibility 1 / TP53 / 7157
138500 / Hyperglycinuria / SLC6A20 / 54716
138500 / Hyperglycinuria / SLC36A2 / 153201
138500 / Hyperglycinuria / SLC6A19 / 340024
140700 / Heinz body anemia / HBA1 / 3039
140700 / Heinz body anemia / HBA2 / 3040
140700 / Heinz body anemia / HBB / 3043
141749 / Fetal hemoglobin quantitative trait locus 1 / HBB / 3043
141749 / Fetal hemoglobin quantitative trait locus 1 / HBG1 / 3047
141749 / Fetal hemoglobin quantitative trait locus 1 / HBG2 / 3048
149730 / LADD syndrome / FGF10 / 2255
149730 / LADD syndrome / FGFR3 / 2261
149730 / LADD syndrome / FGFR2 / 2263
155255 / Medulloblastoma / BRCA2 / 675
155255 / Medulloblastoma / PTCH2 / 8643
155255 / Medulloblastoma / SUFU / 51684
157300 / Migraine without aura / EDNRA / 1909
157300 / Migraine without aura / ESR1 / 2099
157300 / Migraine without aura / TNF / 7124
158000 / Monilethrix / KRT81 / 3887
158000 / Monilethrix / KRT83 / 3889
158000 / Monilethrix / KRT86 / 3892
158810 / Bethlem myopathy 1 / COL6A1 / 1291
158810 / Bethlem myopathy 1 / COL6A2 / 1292
158810 / Bethlem myopathy 1 / COL6A3 / 1293
163200 / Schimmelpenning-Feuerstein-Mims syndrome / HRAS / 3265
163200 / Schimmelpenning-Feuerstein-Mims syndrome / KRAS / 3845
163200 / Schimmelpenning-Feuerstein-Mims syndrome / NRAS / 4893
164230 / Obsessive-compulsive disorder / BDNF / 627
164230 / Obsessive-compulsive disorder / HTR2A / 3356
164230 / Obsessive-compulsive disorder / SLC6A4 / 6532
187950 / Thrombocythemia 1 / CALR / 811
187950 / Thrombocythemia 1 / THPO / 7066
187950 / Thrombocythemia 1 / SH2B3 / 10019
192600 / Cardiomyopathy / CAV3 / 859
192600 / Cardiomyopathy / MYH7 / 4625
192600 / Cardiomyopathy / MYLK2 / 85366
194070 / Wilms tumor / BRCA2 / 675
194070 / Wilms tumor / GPC3 / 2719
194070 / Wilms tumor / WT1 / 7490
202400 / Afibrinogenemia / FGA / 2243
202400 / Afibrinogenemia / FGB / 2244
202400 / Afibrinogenemia / FGG / 2266
211900 / Tumoralcalcinosis / GALNT3 / 2591
211900 / Tumoralcalcinosis / FGF23 / 8074
211900 / Tumoralcalcinosis / KL / 9365
216360 / COACH syndrome / RPGRIP1L / 23322
216360 / COACH syndrome / CC2D2A / 57545
216360 / COACH syndrome / TMEM67 / 91147
219700 / Cystic fibrosis lung disease / CFTR / 1080
219700 / Cystic fibrosis lung disease / FCGR2A / 2212
219700 / Cystic fibrosis lung disease / TGFB1 / 7040
220290 / Deafness / GJB2 / 2706
220290 / Deafness / GJB3 / 2707
220290 / Deafness / GJB6 / 10804
226700 / Epidermolysisbullosa / LAMA3 / 3909
226700 / Epidermolysisbullosa / LAMB3 / 3914
226700 / Epidermolysisbullosa / LAMC2 / 3918
231200 / Bernard-Soulier syndrome / GP1BA / 2811
231200 / Bernard-Soulier syndrome / GP1BB / 2812
231200 / Bernard-Soulier syndrome / GP9 / 2815
231680 / Glutaricacidemia IIA / ETFA / 2108
231680 / Glutaricacidemia IIA / ETFB / 2109
231680 / Glutaricacidemia IIA / ETFDH / 2110
235400 / Hemolytic uremic syndrome / CFH / 3075
235400 / Hemolytic uremic syndrome / CFHR1 / 3078
235400 / Hemolytic uremic syndrome / CFHR3 / 10878
242600 / Iminoglycinuria / SLC6A20 / 54716
242600 / Iminoglycinuria / SLC36A2 / 153201
242600 / Iminoglycinuria / SLC6A19 / 340024
248600 / Maple syrup urine disease / BCKDHA / 593
248600 / Maple syrup urine disease / BCKDHB / 594
248600 / Maple syrup urine disease / DBT / 1629
253290 / Multiple pterygium syndrome / CHRNA1 / 1134
253290 / Multiple pterygium syndrome / CHRND / 1144
253290 / Multiple pterygium syndrome / CHRNG / 1146
254090 / Ullrich congenital muscular dystrophy 1 / COL6A1 / 1291
254090 / Ullrich congenital muscular dystrophy 1 / COL6A2 / 1292
254090 / Ullrich congenital muscular dystrophy 1 / COL6A3 / 1293
255310 / Myopathy / ACTA1 / 58
255310 / Myopathy / TPM3 / 7170
255310 / Myopathy / SEPN1 / 57190
259500 / Osteosarcoma / RB1 / 5925
259500 / Osteosarcoma / TP53 / 7157
259500 / Osteosarcoma / CHEK2 / 11200
264350 / Pseudohypoaldosteronism / SCNN1A / 6337
264350 / Pseudohypoaldosteronism / SCNN1B / 6338
264350 / Pseudohypoaldosteronism / SCNN1G / 6340
264800 / Pseudoxanthomaelasticum / ABCC6 / 368
264800 / Pseudoxanthomaelasticum / XYLT1 / 64131
264800 / Pseudoxanthomaelasticum / XYLT2 / 64132
268220 / Rhabdomyosarcoma 2 / FOXO1 / 2308
268220 / Rhabdomyosarcoma 2 / PAX3 / 5077
268220 / Rhabdomyosarcoma 2 / PAX7 / 5081
269160 / Schizencephaly / EMX2 / 2018
269160 / Schizencephaly / SHH / 6469
269160 / Schizencephaly / SIX3 / 6496
273300 / Germ cell tumors / FGFR3 / 2261
273300 / Germ cell tumors / KIT / 3815
273300 / Germ cell tumors / STK11 / 6794
600791 / Deafness / FOXI1 / 2299
600791 / Deafness / KCNJ10 / 3766
600791 / Deafness / SLC26A4 / 5172
602089 / Hemangioma / FLT4 / 2324
602089 / Hemangioma / KDR / 3791
602089 / Hemangioma / ANTXR1 / 84168
603554 / Omenn syndrome / RAG1 / 5896
603554 / Omenn syndrome / RAG2 / 5897
603554 / Omenn syndrome / DCLRE1C / 64421
604229 / Peters anomaly / CYP1B1 / 1545
604229 / Peters anomaly / PAX6 / 5080
604229 / Peters anomaly / PITX2 / 5308
604571 / Bare lymphocyte syndrome / TAP1 / 6890
604571 / Bare lymphocyte syndrome / TAP2 / 6891
604571 / Bare lymphocyte syndrome / TAPBP / 6892
605462 / Basal cell carcinoma / PTCH1 / 5727
605462 / Basal cell carcinoma / RASA1 / 5921
605462 / Basal cell carcinoma / PTCH2 / 8643
605899 / Glycine encephalopathy / AMT / 275
605899 / Glycine encephalopathy / GCSH / 2653
605899 / Glycine encephalopathy / GLDC / 2731
606864 / Paraganglioma and gastric stromal sarcoma / SDHB / 6390
606864 / Paraganglioma and gastric stromal sarcoma / SDHC / 6391
606864 / Paraganglioma and gastric stromal sarcoma / SDHD / 6392
606963 / Pulmonary disease / HMOX1 / 3162
606963 / Pulmonary disease / MMP1 / 4312
606963 / Pulmonary disease / SERPINA1 / 5265
607748 / Hypercholanemia / BAAT / 570
607748 / Hypercholanemia / EPHX1 / 2052
607748 / Hypercholanemia / TJP2 / 9414
608516 / Major depressive disorder / FKBP5 / 2289
608516 / Major depressive disorder / HTR2A / 3356
608516 / Major depressive disorder / TPH2 / 121278
Table S2.The 572 disease genes corresponding to the 54 diseases which are included in the DisGeNET database.
OMIM ID / Phenotype / Gene symbol / Entrez ID125853 / Diabetes mellitus / CP / 1356
125853 / Diabetes mellitus / GLIS3 / 169792
125853 / Diabetes mellitus / PTPN22 / 26191
125853 / Diabetes mellitus / ZFP57 / 346171
125853 / Diabetes mellitus / AQP2 / 359
125853 / Diabetes mellitus / INS / 3630
125853 / Diabetes mellitus / INSR / 3643
125853 / Diabetes mellitus / FOXP3 / 50943
125853 / Diabetes mellitus / IER3IP1 / 51124
125853 / Diabetes mellitus / PLAGL1 / 5325
125853 / Diabetes mellitus / PPP1R3A / 5506
125853 / Diabetes mellitus / AVP / 551
125853 / Diabetes mellitus / AVPR2 / 554
125853 / Diabetes mellitus / HYMAI / 57061
125853 / Diabetes mellitus / SLC2A4 / 6517
125853 / Diabetes mellitus / KLF11 / 8462
114500 / Colon cancer / MLH1 / 4292
114480 / Breast cancer / PRLR / 5618
114480 / Breast cancer / RAD51C / 5889
114480 / Breast cancer / BRCA1 / 672
601626 / Leukemia / ARL11 / 115761
601626 / Leukemia / ARHGAP26 / 23092
601626 / Leukemia / ABL1 / 25
601626 / Leukemia / SETBP1 / 26040
601626 / Leukemia / IGHV3-21 / 28444
601626 / Leukemia / KMT2A / 4297
601626 / Leukemia / MYH11 / 4629
601626 / Leukemia / ATM / 472
601626 / Leukemia / NF1 / 4763
601626 / Leukemia / NRAS / 4893
601626 / Leukemia / NUMA1 / 4926
601626 / Leukemia / P2RX7 / 5027
601626 / Leukemia / PAX5 / 5079
601626 / Leukemia / PML / 5371
601626 / Leukemia / PRKAR1A / 5573
601626 / Leukemia / PTPN11 / 5781
601626 / Leukemia / RARA / 5914
601626 / Leukemia / CCND1 / 595
601626 / Leukemia / BCR / 613
601626 / Leukemia / TP53 / 7157
601626 / Leukemia / ZBTB16 / 7704
601626 / Leukemia / CBL / 867
256000 / Leigh syndrome / LRPPRC / 10128
256000 / Leigh syndrome / ATP6 / 4508
181500 / Schizophrenia / GJA5 / 2702
181500 / Schizophrenia / GJA8 / 2703
181500 / Schizophrenia / DISC2 / 27184
181500 / Schizophrenia / NRG1 / 3084
181500 / Schizophrenia / ATP2A2 / 488
181500 / Schizophrenia / MAGI2 / 9863
601665 / Obesity / RAI1 / 10743
601665 / Obesity / DPYD / 1806
601665 / Obesity / SH2B1 / 25970
601665 / Obesity / AFF4 / 27125
601665 / Obesity / GNAS / 2778
601665 / Obesity / APOE / 348
601665 / Obesity / LEP / 3952
601665 / Obesity / LEPR / 3953
601665 / Obesity / NTRK2 / 4915
601665 / Obesity / PCSK1 / 5122
608446 / Myocardial infarcation / SH2B3 / 10019
608446 / Myocardial infarcation / ACE / 1636
176807 / Prostate cancer / HOXB13 / 10481
176807 / Prostate cancer / RNASEL / 6041
104300 / Alzheimer disease / APOE / 348
104300 / Alzheimer disease / PSEN2 / 5664
600807 / Asthma / TBX21 / 30009
600807 / Asthma / IL4 / 3565
180300 / Rheumatoid arthritis / IL6 / 3569
180300 / Rheumatoid arthritis / MIF / 4282
180300 / Rheumatoid arthritis / TNF / 7124
133239 / Esophageal cancer / RHBDF2 / 79651
143890 / Hypercholesterolemia / CYP7A1 / 1581
143890 / Hypercholesterolemia / PCSK9 / 255738
143890 / Hypercholesterolemia / LDLRAP1 / 26119
143890 / Hypercholesterolemia / APOB / 338
143890 / Hypercholesterolemia / APOE / 348
143890 / Hypercholesterolemia / LPL / 4023
144700 / Renal cell carcinoma / MET / 4233
144700 / Renal cell carcinoma / PIK3CA / 5290
144700 / Renal cell carcinoma / TFE3 / 7030
144700 / Renal cell carcinoma / TP53 / 7157
144700 / Renal cell carcinoma / TSC1 / 7248
187500 / Tetralogy of Fallot / CITED2 / 10370
187500 / Tetralogy of Fallot / FOXC2 / 2303
187500 / Tetralogy of Fallot / GJA5 / 2702
166710 / Osteoporosis / CYP19A1 / 1588
166710 / Osteoporosis / TNFRSF11B / 4982
166710 / Osteoporosis / SLC34A1 / 6569
166710 / Osteoporosis / WNT1 / 7471
166710 / Osteoporosis / SLC9A3R1 / 9368
607174 / Meningioma / AKT1 / 207
607174 / Meningioma / BAP1 / 8314
167800 / Pancreatitis / LPL / 4023
168600 / Pancreatitis / PARK7 / 11315
168600 / Pancreatitis / LRRK2 / 120892
168600 / Pancreatitis / FBXO7 / 25793
168600 / Pancreatitis / GIGYF2 / 26058
168600 / Pancreatitis / HTRA2 / 27429
168600 / Pancreatitis / PARK2 / 5071
168600 / Pancreatitis / PINK1 / 65018
168600 / Pancreatitis / SNCA / 6622
168600 / Pancreatitis / UCHL1 / 7345
168600 / Pancreatitis / PLA2G6 / 8398
222100 / Diabetes, type 1 / CP / 1356
222100 / Diabetes, type 1 / GLIS3 / 169792
222100 / Diabetes, type 1 / AKT2 / 208
222100 / Diabetes, type 1 / GCK / 2645
222100 / Diabetes, type 1 / HNF4A / 3172
222100 / Diabetes, type 1 / ZFP57 / 346171
222100 / Diabetes, type 1 / AQP2 / 359
222100 / Diabetes, type 1 / INS / 3630
222100 / Diabetes, type 1 / INSR / 3643
222100 / Diabetes, type 1 / PDX1 / 3651
222100 / Diabetes, type 1 / IRS1 / 3667
222100 / Diabetes, type 1 / KCNJ11 / 3767
222100 / Diabetes, type 1 / TRNL1 / 4567
222100 / Diabetes, type 1 / NEUROD1 / 4760
222100 / Diabetes, type 1 / PAX4 / 5078
222100 / Diabetes, type 1 / IER3IP1 / 51124
222100 / Diabetes, type 1 / PLAGL1 / 5325
222100 / Diabetes, type 1 / PPARG / 5468
222100 / Diabetes, type 1 / PPP1R3A / 5506
222100 / Diabetes, type 1 / AVP / 551
222100 / Diabetes, type 1 / AVPR2 / 554
222100 / Diabetes, type 1 / HYMAI / 57061
222100 / Diabetes, type 1 / SLC2A4 / 6517
222100 / Diabetes, type 1 / ABCC8 / 6833
222100 / Diabetes, type 1 / HNF1B / 6928
222100 / Diabetes, type 1 / KLF11 / 8462
222100 / Diabetes, type 1 / MAPK8IP1 / 9479
226650 / Epidermolysisbullosa / COL7A1 / 1294
226650 / Epidermolysisbullosa / DSP / 1832
226650 / Epidermolysisbullosa / ITGA6 / 3655
226650 / Epidermolysisbullosa / ITGA3 / 3675
226650 / Epidermolysisbullosa / KRT5 / 3852
226650 / Epidermolysisbullosa / KRT14 / 3861
226650 / Epidermolysisbullosa / PLEC / 5339
226650 / Epidermolysisbullosa / CD151 / 977
603896 / Leukoencephalopathy with vanishing white matter / CLCN2 / 1181
603896 / Leukoencephalopathy with vanishing white matter / CSF1R / 1436
603896 / Leukoencephalopathy with vanishing white matter / MLC1 / 23209
603896 / Leukoencephalopathy with vanishing white matter / TREM2 / 54209
603896 / Leukoencephalopathy with vanishing white matter / DARS2 / 55157
603896 / Leukoencephalopathy with vanishing white matter / HTRA1 / 5654
603896 / Leukoencephalopathy with vanishing white matter / SCP2 / 6342
603896 / Leukoencephalopathy with vanishing white matter / TYROBP / 7305
603896 / Leukoencephalopathy with vanishing white matter / RNASET2 / 8635
605027 / Lymphoma, follicular / CTLA4 / 1493
605027 / Lymphoma, follicular / MLH1 / 4292
605027 / Lymphoma, follicular / MYC / 4609
605027 / Lymphoma, follicular / ATM / 472
605027 / Lymphoma, follicular / NRAS / 4893
605027 / Lymphoma, follicular / PAX5 / 5079
605027 / Lymphoma, follicular / CCND1 / 595
605027 / Lymphoma, follicular / BCL2 / 596
605027 / Lymphoma, follicular / CD28 / 940
105200 / Amyloidosis, familial visceral / APP / 351
105200 / Amyloidosis, familial visceral / TTR / 7276
105200 / Amyloidosis, familial visceral / OSMR / 9180
105400 / Amyotrophic lateral sclerosis / OPTN / 10133
105400 / Amyotrophic lateral sclerosis / SIGMAR1 / 10280
105400 / Amyotrophic lateral sclerosis / PPARGC1A / 10891
105400 / Amyotrophic lateral sclerosis / DAO / 1610
105400 / Amyotrophic lateral sclerosis / EPHA4 / 2043
105400 / Amyotrophic lateral sclerosis / ERBB4 / 2066
105400 / Amyotrophic lateral sclerosis / UNC13A / 23025
105400 / Amyotrophic lateral sclerosis / SETX / 23064
105400 / Amyotrophic lateral sclerosis / TARDBP / 23435
105400 / Amyotrophic lateral sclerosis / FUS / 2521
105400 / Amyotrophic lateral sclerosis / CHMP2B / 25978
105400 / Amyotrophic lateral sclerosis / ANG / 283
105400 / Amyotrophic lateral sclerosis / TBK1 / 29110
105400 / Amyotrophic lateral sclerosis / UBQLN2 / 29978
105400 / Amyotrophic lateral sclerosis / HNRNPA1 / 3178
105400 / Amyotrophic lateral sclerosis / PFN1 / 5216
105400 / Amyotrophic lateral sclerosis / TREM2 / 54209
105400 / Amyotrophic lateral sclerosis / PON1 / 5444
105400 / Amyotrophic lateral sclerosis / PON2 / 5445
105400 / Amyotrophic lateral sclerosis / PON3 / 5446
105400 / Amyotrophic lateral sclerosis / TRPM7 / 54822
105400 / Amyotrophic lateral sclerosis / ATXN2 / 6311
105400 / Amyotrophic lateral sclerosis / VCP / 7415
105400 / Amyotrophic lateral sclerosis / SQSTM1 / 8878
105400 / Amyotrophic lateral sclerosis / VAPB / 9217
105400 / Amyotrophic lateral sclerosis / MATR3 / 9782
105400 / Amyotrophic lateral sclerosis / FIG4 / 9896
162900 / Dejerine-Sottas disease / KRAS / 3845
188050 / Thromboembolism / JAK2 / 3717
209920 / Bare lymphocyte syndrome / TAP1 / 6890
209920 / Bare lymphocyte syndrome / TAP2 / 6891
209920 / Bare lymphocyte syndrome / TAPBP / 6892
260350 / Pancreatic cancer / CDKN2A / 1029
601680 / Arthrogryposis multiplex congenita / CHRNG / 1146
601680 / Arthrogryposis multiplex congenita / ERCC6 / 2074
601680 / Arthrogryposis multiplex congenita / VPS33B / 26276
601680 / Arthrogryposis multiplex congenita / GLE1 / 2733
601680 / Arthrogryposis multiplex congenita / VIPAS39 / 63894
601680 / Arthrogryposismultiplex congenita / PIEZO2 / 63895
601680 / Arthrogryposis multiplex congenita / UBA1 / 7317
601680 / Arthrogryposis multiplex congenita / ECEL1 / 9427
606176 / Diabetes mellitus / CP / 1356
606176 / Diabetes mellitus / GLIS3 / 169792
606176 / Diabetes mellitus / AKT2 / 208
606176 / Diabetes mellitus / PTPN22 / 26191
606176 / Diabetes mellitus / HNF4A / 3172
606176 / Diabetes mellitus / ZFP57 / 346171
606176 / Diabetes mellitus / AQP2 / 359
606176 / Diabetes mellitus / INSR / 3643
606176 / Diabetes mellitus / PDX1 / 3651
606176 / Diabetes mellitus / IRS1 / 3667
606176 / Diabetes mellitus / NEUROD1 / 4760
606176 / Diabetes mellitus / PAX4 / 5078
606176 / Diabetes mellitus / FOXP3 / 50943
606176 / Diabetes mellitus / IER3IP1 / 51124
606176 / Diabetes mellitus / PLAGL1 / 5325
606176 / Diabetes mellitus / PPARG / 5468
606176 / Diabetes mellitus / PPP1R3A / 5506
606176 / Diabetes mellitus / AVP / 551
606176 / Diabetes mellitus / AVPR2 / 554
606176 / Diabetes mellitus / HYMAI / 57061
606176 / Diabetes mellitus / SLC2A4 / 6517
606176 / Diabetes mellitus / HNF1A / 6927
606176 / Diabetes mellitus / HNF1B / 6928
606176 / Diabetes mellitus / KLF11 / 8462
606176 / Diabetes mellitus / MAPK8IP1 / 9479
606764 / Gastrointestinal stromal tumor / SDHA / 6389
607785 / Leukemia / CEBPA / 1050
607785 / Leukemia / ARL11 / 115761
607785 / Leukemia / FLT3 / 2322
607785 / Leukemia / ABL1 / 25
607785 / Leukemia / SETBP1 / 26040
607785 / Leukemia / IGHV3-21 / 28444
607785 / Leukemia / JAK2 / 3717
607785 / Leukemia / KIT / 3815
607785 / Leukemia / KRAS / 3845
607785 / Leukemia / KMT2A / 4297
607785 / Leukemia / MYH11 / 4629
607785 / Leukemia / ATM / 472
607785 / Leukemia / NPM1 / 4869
607785 / Leukemia / NRAS / 4893
607785 / Leukemia / NUMA1 / 4926
607785 / Leukemia / P2RX7 / 5027
607785 / Leukemia / PAX5 / 5079
607785 / Leukemia / PML / 5371
607785 / Leukemia / PRKAR1A / 5573
607785 / Leukemia / RARA / 5914
607785 / Leukemia / CCND1 / 595
607785 / Leukemia / BCR / 613
607785 / Leukemia / TP53 / 7157
607785 / Leukemia / ZBTB16 / 7704
607785 / Leukemia / RUNX1 / 861
607785 / Leukemia / CBFB / 865
607785 / Leukemia / CBL / 867
112600 / Brachydactyly / CHSY1 / 22856
112600 / Brachydactyly / GNAS / 2778
112600 / Brachydactyly / HOXD13 / 3239
112600 / Brachydactyly / IHH / 3549
112600 / Brachydactyly / SMAD4 / 4089
112600 / Brachydactyly / ROR2 / 4920
112600 / Brachydactyly / PDE3A / 5139
112600 / Brachydactyly / PTHLH / 5744
112600 / Brachydactyly / TRPV4 / 59341
112600 / Brachydactyly / NOG / 9241
112600 / Brachydactyly / HDAC4 / 9759
130000 / Ehlers-Danlos syndrome / B4GALT7 / 11285
130000 / Ehlers-Danlos syndrome / CHST14 / 113189
130000 / Ehlers-Danlos syndrome / COL1A2 / 1278
130000 / Ehlers-Danlos syndrome / COL3A1 / 1281
130000 / Ehlers-Danlos syndrome / PLOD1 / 5351
130000 / Ehlers-Danlos syndrome / TNXB / 7148
130000 / Ehlers-Danlos syndrome / C1R / 715
130000 / Ehlers-Danlos syndrome / ZNF469 / 84627
130000 / Ehlers-Danlos syndrome / SLC39A13 / 91252
130000 / Ehlers-Danlos syndrome / ADAMTS2 / 9509
133200 / Erythrokeratodermiavariabilis et progressiva / AP1S1 / 1174
133200 / Erythrokeratodermiavariabilis et progressiva / ELOVL4 / 6785
155255 / Medulloblastoma / CTNNB1 / 1499
155255 / Medulloblastoma / APC / 324
155255 / Medulloblastoma / PTCH1 / 5727
157300 / Migraine without aura / TGFBR2 / 7048
192600 / Cardiomyopathy / ABCC9 / 10060
192600 / Cardiomyopathy / LDB3 / 11155
192600 / Cardiomyopathy / DES / 1674
192600 / Cardiomyopathy / DMD / 1756
192600 / Cardiomyopathy / DSP / 1832
192600 / Cardiomyopathy / EYA4 / 2070
192600 / Cardiomyopathy / FKTN / 2218
192600 / Cardiomyopathy / GJA5 / 2702
192600 / Cardiomyopathy / RBM20 / 282996
192600 / Cardiomyopathy / LMNA / 4000
192600 / Cardiomyopathy / CYTB / 4519
192600 / Cardiomyopathy / MYBPC3 / 4607
192600 / Cardiomyopathy / MYH6 / 4624
192600 / Cardiomyopathy / MYL2 / 4633
192600 / Cardiomyopathy / MYL3 / 4634
192600 / Cardiomyopathy / NDUFS1 / 4719
192600 / Cardiomyopathy / TNNI3K / 51086
192600 / Cardiomyopathy / PRKAG2 / 51422
192600 / Cardiomyopathy / PLN / 5350
192600 / Cardiomyopathy / TMEM70 / 54968
192600 / Cardiomyopathy / AGK / 55750
192600 / Cardiomyopathy / PSEN1 / 5663
192600 / Cardiomyopathy / PSEN2 / 5664
192600 / Cardiomyopathy / RAF1 / 5894
192600 / Cardiomyopathy / SCN5A / 6331
192600 / Cardiomyopathy / SDHA / 6389
192600 / Cardiomyopathy / SGCD / 6444
192600 / Cardiomyopathy / ACTC1 / 70
192600 / Cardiomyopathy / TMPO / 7112
192600 / Cardiomyopathy / TNNC1 / 7134
192600 / Cardiomyopathy / TNNI3 / 7137
192600 / Cardiomyopathy / TNNT2 / 7139
192600 / Cardiomyopathy / TPM1 / 7168
192600 / Cardiomyopathy / TTN / 7273
192600 / Cardiomyopathy / VCL / 7414
192600 / Cardiomyopathy / ALMS1 / 7840
192600 / Cardiomyopathy / CSRP3 / 8048
192600 / Cardiomyopathy / ACTN2 / 88